Acta Myologica最新文献_第9页

SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family. 葡萄牙一个家族的 SIGMAR1 基因突变导致远端遗传性运动神经病。

Acta Myologica Pub Date : 2018-05-01

Luciano Almendra, Francisco Laranjeira, Ana Fernández-Marmiesse, Luís Negrão

引用次数: 0

Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results. 1型强直性肌营养不良患者抗<s:1>勒氏激素水平的研究。初步结果。

Acta Myologica Pub Date : 2017-12-01

Manuela Ergoli, Massimo Venditti, Raffaele Dotolo, Esther Picillo, Sergio Minucci, Luisa Politano

{"title":"Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results.","authors":"Manuela Ergoli, Massimo Venditti, Raffaele Dotolo, Esther Picillo, Sergio Minucci, Luisa Politano","doi":"","DOIUrl":"","url":null,"abstract":"Myotonic dystrophy type 1 is a multisystemic disorder characterized by myotonia, muscle weakness and involvement of several organs and apparatus such as heart, lungs, eye, brain and endocrine system. Hypogonadism and reproductive abnormalities are frequently reported. A progressive testicular atrophy occurs in about 80% in the affected males leading to Leydig cell hyperproliferation and elevated basal follicle stimulating hormone (FSH) levels. Anti-Müllerian hormone (AMH) - a dimeric glycoprotein belonging to the super-family of transforming grow factor beta (TGF-beta) - is the earliest Sertoli cell hormone secreted in males and, together with inhibin B and FSH, is an important indicator of Sertoli cell function. AMH levels remain high during the whole prepubertal phase and are down-regulated in puberty by the increasing testosterone levels. Aims of the work were to assess the AMH levels in 50 patients with Myotonic Dystrophy type 1 aged less 50 years and to investigate whether it may contribute to the endocrine function impairment observed in these patients. The results confirmed a reduction of testosterone levels associated with an increase in Luteinizing Hormone (LH) and FSH compared to controls, suggesting a reduced function of the Sertoli cells. Conversely the average levels of AMH were significantly lower in patients compared with controls, and almost undetectable in about 60% of them. Further studies are necessary to better clarify these findings.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"36 4","pages":"199-202"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953232/pdf/am-2017-04-199.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36106027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a patient with Myotonic Dystrophy type 1 and atrial fibrillation. 一名患有肌营养不良症1型和心房颤动的患者通过口服达比加群酯完全缓解了左心房阑尾血栓。

Acta Myologica Pub Date : 2017-12-01

Anna Rago, Andrea Antonio Papa, Giulia Arena, Marco Mosella, Antonio Cassese, Alberto Palladino, Paolo Golino

引用次数: 0

Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry. 空泡肌活检的鉴别诊断:使用p62、LC3和LAMP2免疫组织化学。

Acta Myologica Pub Date : 2017-12-01

Elisa Vittonatto, Silvia Boschi, Loredana CHIADò-Piat, Valentina Ponzalino, Sara Bortolani, Chiara Brusa, Innocenzo Rainero, Federica Ricci, Liliana Vercelli, Tiziana Mongini

{"title":"Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry.","authors":"Elisa Vittonatto, Silvia Boschi, Loredana CHIADò-Piat, Valentina Ponzalino, Sara Bortolani, Chiara Brusa, Innocenzo Rainero, Federica Ricci, Liliana Vercelli, Tiziana Mongini","doi":"","DOIUrl":"","url":null,"abstract":"Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultrastructural analysis is an important confirmatory tool, but it is not widely available. Immunohistochemical stainings for p62, LAMP2 and LC3 are commonly available as tissutal marker for autophagy. We compared the immunohistochemical patterns for autophagic markers p62, LC3 and LAMP2 with routine histochemical markers in 39 biopsies from patients with definite diagnoses of glycogen storage disease type 2 (LOPD or Pompe disease, PD), sporadic inclusion body myositis (sIBM), oculo-pharyngeal muscular dystrophy (OPMD) and necrotizing myopathy (NM). Moreover, we also analyzed muscles of 10 normal controls. In PD group, LC3 and LAMP2 showed an higher percentage of positive fibers, whereas p62 was limited to a minority of fibers, thus paralleling the results of histochemical stainings; in NM group, LAMP2 and LC-3 were diffusely and unspecifically expressed in necrotic fibers, with p62 significantly expressed only in two cases. OPMD biopsies did not reveal any significant positivity. The most interesting results were observed in sIBM group, where p62 was expressed in all cases, even in fibers without other markers positivity. There results, although limited to a small number of cases, suggest that the contemporary use of p62, LAMP2 and LC-3 staining may have an adjunctive role in characterizing muscle fiber vacuoles, revealing autophagic pathway activation and providing further clues for the understanding of pathogenetic mechanisms.s.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"36 4","pages":"191-198"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953231/pdf/am-2017-04-191.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36106026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report. 心外膜左心室导联植入术是斯坦纳特病患者经皮穿刺的替代方法吗?一份病例报告。

Acta Myologica Pub Date : 2017-12-01

Andrea Antonio Papa, Anna Rago, Roberta Petillo, Paola D'Ambrosio, Marianna Scutifero, Marisa DE Feo, Ciro Maiello, Alberto Palladino

{"title":"Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report.","authors":"Andrea Antonio Papa, Anna Rago, Roberta Petillo, Paola D'Ambrosio, Marianna Scutifero, Marisa DE Feo, Ciro Maiello, Alberto Palladino","doi":"","DOIUrl":"","url":null,"abstract":"Steinert's disease or Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder characterized by myotonia, muscle and facial weakness, cataracts, cognitive, endocrine and gastrointestinal involvement, and cardiac conduction abnormalities. Although mild myocardial dysfunction may be detected in this syndrome with age, overt myocardial dysfunction with heart failure is not frequent. Cardiac resynchronization therapy is an effective treatment to improve morbidity and reduce mortality in patients with DM1 showing intra-ventricular conduction delay and/or congestive heart failure. We report the case of a patient with Steinert disease showing an early onset ventricular dysfunction due to chronic right ventricular apical pacing, in which an epicardial left ventricular lead implantation was performed following the failure of the percutaneous attempt. As no relief in symptoms of heart failure, nor an improvement of left ventricular ejection fraction and reverse remodelling was observed six months later, the patient was addressed to the heart transplantation.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"36 4","pages":"213-217"},"PeriodicalIF":0.0,"publicationDate":"2017-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953235/pdf/am-2017-04-213.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36106921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The multifaceted clinical presentation of VCP-proteinopathy in a Greek family. 一个希腊家庭vcp蛋白病的多方面临床表现。

Acta Myologica Pub Date : 2017-12-01

George K Papadimas, George P Paraskevas, Thomas Zambelis, Chrisostomos Karagiaouris, Mara Bourbouli, Anastasia Bougea, Maggie C Walter, Nicolas U Schumacher, Sabine Krause, Elisabeth Kapaki

引用次数: 0

Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene. 三例由 LMNA 基因突变引起的扩张型心肌病新病例。

Acta Myologica Pub Date : 2017-12-01

Larysa N Sivitskaya, Nina G Danilenko, Tatiyana G Vaikhanskaya, Tatsiyana V Kurushka, Oleg G Davydenko

引用次数: 0

Arrhythmogenic right ventricular cardiomyopathy in Boxer dogs: the diagnosis as a link to the human disease. 拳师犬致心律失常性右室心肌病:诊断与人类疾病的联系。

Acta Myologica Pub Date : 2017-09-01

Annina S Vischer, David J Connolly, Caroline J Coats, Virginia Luis Fuentes, William J McKenna, Silvia Castelletti, Antonios A Pantazis

{"title":"Arrhythmogenic right ventricular cardiomyopathy in Boxer dogs: the diagnosis as a link to the human disease.","authors":"Annina S Vischer, David J Connolly, Caroline J Coats, Virginia Luis Fuentes, William J McKenna, Silvia Castelletti, Antonios A Pantazis","doi":"","DOIUrl":"","url":null,"abstract":"Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease with an increased risk for ventricular arrhythmias. The condition, which occurs in Boxer dogs, shares phenotypic features with the human disease arrhythmogenic cardiomyopathy (ACM) suggesting its potential as a natural animal model. However, there are currently no universally accepted clinical criteria to diagnose ARVC in Boxer dogs. We aimed to identify diagnostic criteria for ARVC in Boxer dogs defining a more uniform and consistent phenotype.Methods and results: Clinical records from 264 Boxer dogs from a referral veterinary hospital were retrospectively analysed. ARVC was initially diagnosed according to the number of ventricular premature complexes (VPCs) in the 24-hour-Holter-ECG in the absence of another obvious cause. Dogs diagnosed this way had more VPCs, polymorphic VPCs, couplets, triplets, VTs and R-on-T-phenomenon and syncope, decreased right ventricular function and dilatation in comparison to a control group of all other Boxer dogs seen by the Cardiology Service over the same period. Presence of couplets and R-on-T-phenomenon on a 24h-ECG were identified as independent predictors of the diagnosis. A diagnosis based on ≥100 VPCs in 24 hours, presence of couplets and R-on-T phenomenon on a 24h-ECG was able to select Boxer dogs with a phenotype most similar to human ACM.Conclusion: We suggest the diagnosis of ARVC in Boxer dogs requires two out of the three following criteria: presence of ≥ 100 VPCs, presence of couplets or R-on-T-phenomenon on a 24 h-ECG. This results in a uniform phenotype similar to that described in human ACM and may result in the adoption of the term ACM for this analogous condition in Boxer dogs.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"36 3","pages":"135-150"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953225/pdf/am-2017-03-135.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36109642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

ERRATA. 勘误表。

Acta Myologica Pub Date : 2017-09-01

引用次数: 0

Bethlem myopathy in a Portuguese patient - case report. 葡萄牙伯利恒肌病1例报告。

Acta Myologica Pub Date : 2017-09-01

Ana Inês Martins, Cristin Maarque, Jorge Pinto-Basto, Luis Negrão

引用次数: 0